Canonical Allele Identifier: CA2243491349

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069224715
• gnomAD v4: 17-2674010-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674010G>C , CM000679.2:g.2674010G>C	GRCh38
NC_000017.10:g.2577304G>C , CM000679.1:g.2577304G>C	GRCh37
NC_000017.9:g.2524054G>C	NCBI36
NG_009799.1:g.85382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.672-50G>C MANE Select	ENSP00000380378.4:n.672-50G>C
ENST00000571495.2:n.1707G>C
ENST00000674608.1:c.726-50G>C	ENSP00000501976.1:n.726-50G>C
ENST00000674717.1:c.477-50G>C	ENSP00000501931.1:n.477-50G>C
ENST00000675202.1:c.672-50G>C	ENSP00000502843.1:n.672-50G>C
ENST00000675331.1:c.672-50G>C	ENSP00000502031.1:n.672-50G>C
ENST00000675390.1:c.672-50G>C	ENSP00000501969.1:n.672-50G>C
ENST00000675574.1:n.1694G>C
ENST00000675621.1:c.672-50G>C	ENSP00000502117.1:n.672-50G>C
ENST00000675764.1:c.*626-50G>C	ENSP00000502242.1:n.*626-50G>C
ENST00000676077.1:c.374-50G>C	ENSP00000502507.1:n.374-50G>C
ENST00000676098.1:c.672-50G>C	ENSP00000502735.1:n.672-50G>C
ENST00000676188.1:c.672-50G>C	ENSP00000502577.1:n.672-50G>C
ENST00000676353.1:c.477-50G>C	ENSP00000502737.1:n.477-50G>C
ENST00000397193.7:n.480-50G>C
ENST00000397195.9:c.672-50G>C	ENSP00000380378.4:n.672-50G>C
ENST00000571495.1:n.346G>C
ENST00000572915.6:n.640-50G>C
ENST00000574468.1:c.168-50G>C	ENSP00000460591.1:n.168-50G>C
ENST00000574816.5:n.31-2304G>C
NM_000430.3:c.672-50G>C	NP_000421.1:n.672-50G>C
XM_011523901.1:c.726-50G>C	XP_011522203.1:n.726-50G>C
XM_011523902.1:c.726-50G>C	XP_011522204.1:n.726-50G>C
XM_011523903.1:c.726-50G>C	XP_011522205.1:n.726-50G>C
XM_011523904.1:c.623-50G>C	XP_011522206.1:n.623-50G>C
XM_011523901.2:c.726-50G>C	XP_011522203.1:n.726-50G>C
XM_011523902.3:c.726-50G>C	XP_011522204.1:n.726-50G>C
XM_011523903.2:c.726-50G>C	XP_011522205.1:n.726-50G>C
XM_017024701.1:c.672-50G>C	XP_016880190.1:n.672-50G>C
XM_017024702.2:c.477-50G>C	XP_016880191.1:n.477-50G>C
NM_000430.4:c.672-50G>C MANE Select	NP_000421.1:n.672-50G>C